Annals of Child Neurology最新文献

{"title":"The Wide Variety of Acute Disseminated Encephalomyelitis in Children: A Clinical Perspective","authors":"Hyun-Suk Lim, Su-Kyeong Hwang, Y. Lee, S. Kwon","doi":"10.26815/acn.2022.00220","DOIUrl":"https://doi.org/10.26815/acn.2022.00220","url":null,"abstract":"Acute disseminated encephalomyelitis (ADEM) is an acute demyelinating inflammatory disorder of the central nervous system. It is characterized by encephalopathy, multifocal neurological deficits, and typical magnetic resonance imaging findings of widespread demyelinating lesions, predominantly involving the white matter of the brain and spinal cord. ADEM mainly affects children and is commonly associated with preceding viral and bacterial infections, and, rarely, vaccinations. Despite substantial advances in the understanding of the association of myelin oligodendrocyte glycoprotein antibody with recurrent forms of ADEM or other demyelinating conditions, specific etiologic agents or biological markers have not been identified. Therefore, the diagnosis of ADEM is still based on clinical and radiological findings and the exclusion of other conditions mimicking ADEM. However, a prompt diagnosis and adequate treatment are crucial because diagnostic delays or inappropriate treatment may lead to unwanted neurological sequelae in some children. There is no standardized treatment protocol for ADEM, but the use of corticosteroids, intravenous immunoglobulin, and plasmapheresis has been associated with good clinical outcomes. Adequate treatment has reportedly resulted in favorable outcomes, with full or almost full recovery in most children with ADEM, although some children may develop neurological sequelae, such as cognitive impairment and motor deficits. Further studies are needed to identify biological clues and optimal treatment protocols to minimize the incidence of neurological sequelae. sequences reveal multiple glycoprotein anti-AQP4-Ab, anti-aquaporin 4","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48242202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Parenting Attitudes by Children and Adolescents with Migraine","authors":"Kyeong Mi Lee, Min Suk Koh, H. Lim, S. Ryu, Yong Joo Kim, Jin-Hwa Moon","doi":"10.26815/acn.2022.00164","DOIUrl":"https://doi.org/10.26815/acn.2022.00164","url":null,"abstract":"Purpose: We aimed to investigate the parenting attitudes reported by patients and their relationships with the characteristics of headaches in children and adolescents with migraine. Methods: We conducted a retrospective review of medical records of children and adolescents with migrainous headaches (n=115; 59.1% female; mean age, 11.89±2.00 years). Children evalu-ated parental attitudes using the Parenting Attitude Test-Youth (PAT-Y), which comprises eight subscales and four newly devised secondary subscales. Headache severity was calculated by the visual analog scale (VAS), monthly frequency (MF), and VAS×MF/4 (VF). The scores of PAT-Y subscales and the correlations between PAT-Y scores and headache severity were analyzed by age group and sex. Scores for children’s depression inventory, childhood behavior checklists, and an attention deficit hyperactivity disorder scale were also analyzed. Results: In the elementary school age group, VAS was weakly negatively correlated with the “achievement press” (r=–0.28, P <0.05) and “high expectation” (r=–0.25, P <0.05) attitudes, and VF was weakly negatively correlated with “achievement press” (r=–0.32, P <0.05), “punishment” (r=–0.27, P <0.05), and “high expectation” (r=–0.29, P <0.05). In the middle-school age group, MF and VF were moderately positively correlated with the “achievement press” attitude (r=0.48, P <0.01 and r=0.48, P <0.01, respectively), VF was weakly positively correlated with the “neglectful” attitude(r=0.31, P <0.05), and MF was weakly positively correlated with scores for depression (r=0.29, P <0.05) and internalized problems (r=0.31, P <0.05). Conclusion: Parenting attitudes perceived by children and adolescents with migrainous headaches varied by age, and some parenting attitudes were related to headache severity. Education on age-appropriate parenting attitudes may help cope with migrainous headaches.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45746375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness","authors":"J. Ko, Ji-Hoon Na, Hyunjoo Lee, J. Byun, Joon Sik Kim, Young-Mock Lee","doi":"10.26815/acn.2022.00143","DOIUrl":"https://doi.org/10.26815/acn.2022.00143","url":null,"abstract":"Myelin oligodendrocyte glycoprotein (MOG) an-tibody-associated disease (MOGAD) is a demyelinating disease of the central nervous system. MOG is a glycoprotein located on the surface of oligodendrocytes that acts as a cellular adhesive molecule in the central nervous system. The role of MOG has not been fully elucidated, but it is known to regulate microtubule stability and mod-ulate myelin-immune interactions by mediating the complement cascade [1]. MOGAD clinically presents with optic neuritis, transverse myelitis (TM), or rarely, acute disseminated encephalomy-elitis (ADEM), depending on the location of the lesion. The clinical manifestations of MOGAD differ by age. Younger children mostly present with an ADEM phenotype.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43073365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy","authors":"Minsun Ryu, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee","doi":"10.26815/acn.2022.00122","DOIUrl":"https://doi.org/10.26815/acn.2022.00122","url":null,"abstract":"Pyridoxine-dependent epilepsy (PDE) is a type of developmental and epileptic encephalopathy manifesting as seizures that are resistant to anti-seizure medication (ASM) but responsive to pharmacologic doses of pyridoxine [1]. PDE caused by bi-allelic mutations in the aldehyde dehydrogenase 7 family member A1 (ALDH7A1) gene on chromosome 5q32.2 is designated PDE-ALDH7A1 [1,2]. Mutations at this locus are associated with decreased activity of α-aminoadipic semialdehyde (α-AASA) dehydrogenase in lysine metabolism [3]. PDE-ALDH7A1 is a rare disease with an estimated incidence of 1:65,000 to 1:250,000 live births [2]. Refractory neonatal seizures are the most common presentation; however, 25% to 30% of patients were found to present with seizures outside of the neonatal period, and varying intellectual disabilities and developmental delays were found in 75% of patients [4]. We report the case of a 9-year-old boy with intractable seizures related to homozygous ALDH7A1 mutations, who improved after triple therapy. The patient had neonatal seizures on his 12th day of life. He was started on multiple ASMs, including phenobarbital, phenytoin, levetiracetam, topiramate, vigabatrin, and clonazepam; however, his seizures and the related epileptiform discharges on electroencephalography (EEG) persisted. He received empiric high-dose vitamin therapy, which included pyridoxine, inconsistently. For the next 7 years, he was admitted repeatedly for recurrent status epilepticus whenever his medications were discontinued. When the patient was 7 years old, his father stopped giving him the prescribed vigabatrin and pyridoxine. Ten days after therapy interruption, he was admitted to the intensive care unit (ICU) for seizures, vomiting, and poor general condition. Doctors resumed vigabatrin and pyridoxine. However, the recurrence of vomiting prevented oral intake of these medications, and he had seizures again. He was readmitted to the ICU and was administered pyridoxine at 50 mg/day (2 mg/kg body weight), after which the seizures stopped. Prompted by this clinical information, wholeexome sequencing was performed in the proband, mother, and father for an accurate diagnosis. Compound heterozygous mutations were identified in the ALDH7A1 genes: NM_001182.4:c. 210C> A (p.Cys70Ter) and c.871+5G >A. The variants confirmed by Sanger sequencing were classified as pathogenic according to the guidelines of the American College of Medical Genetics and Genomics [5]. A segregation study showed both parents as carriers of the variants (Fig. 1). We diagnosed the patient with PDE and increased the pyridoxine dose to 300 mg/day (10 mg/kg). Since pyridoxine supplementation, he became sei-","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46856390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series","authors":"H. Kim, Young Joon Ko, S. Kim, A. Cho, Hunmin Kim, B. Lim, H. Hwang, J. Chae, Jieun Choi, Ki Joong Kim","doi":"10.26815/acn.2022.00115","DOIUrl":"https://doi.org/10.26815/acn.2022.00115","url":null,"abstract":"Purpose: Patients with self-limited epilepsy with centrotemporal spikes (SLECTS) rarely experi-ence generalized tonic-clonic seizures (GTCS) after remission, and post-remission GTCS has not been thoroughly described in earlier studies. Herein, we describe the clinical and electrographic features of GTCS after a substantial period of seizure freedom in patients with SLECTS. Methods: This study included six patients (three boys and three girls) diagnosed with SLECTS who later developed GTCS after or near remission. Medical records, including clinical data and serial electroencephalography (EEG) recordings, were retrospectively reviewed for all patients. Results: Patients’ age at SLECTS onset ranged from 5.2 to 10.2 years (mean, 8.4 years), while seizure cessation was achieved between 8 and 12.2 years. During SLECTS, typical centrotemporal spikes were observed in all patients, and generalized spike-and-wave discharges were observed in three patients. The age at the first episode of subsequent GTCS ranged from 14.4 to 17.3 years (mean, 15.8 years), constituting an average interval of 5.6 years after the last episode of seizures (range, 4.1 to 8.1 years). EEG at subsequent episodes of GTCS revealed generalized discharges in two patients, focal discharges in two other patients, and normal discharges in the remaining two patients. Two patients had multiple episodes of GTCS. Conclusion: Although rare, GTCS may occur near or after remission in patients with SLECTS, and clinicians should be aware of this. Subsequent GTCS may be a manifestation of idiopathic generalized epilepsy. However, large-scale studies are needed to determine the nature of such episodes of GTCS and their associated risk factors.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46831954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frontal Lobe Epilepsy in a Pediatric Population: Characterization of Clinical Manifestations and Semiology","authors":"Dajeong Lee, Jiwon Lee, Jeehun Lee","doi":"10.26815/acn.2022.00185","DOIUrl":"https://doi.org/10.26815/acn.2022.00185","url":null,"abstract":"Purpose: Frontal lobe epilepsy (FLE) has various clinical presentations depending on the anatomy involved. Seizures are brief and can mimic psychiatric conditions, and patients often cannot de-scribe the aura. Therefore, it is difficult to characterize the semiology, especially in pediatric patients. This study investigated the characteristics of pediatric FLE. Methods: We retrospectively reviewed the data of pediatric patients with FLE who underwent long-term video-electroencephalography (EEG) monitoring between January 2010 and June 2020. Patients’ demographic data, seizure-related clinical presentations, semiology, brain magnetic resonance imaging (MRI), and EEG data were analyzed. Results: Fifty-six patients were included (31 males, 25 females). The age of seizure onset varied from 1 month to 14 years (mean±standard deviation, 6.1±4.4 years). Seizures were classified into nine categories, including focal tonic (30/56), aura (22/56), hypermotor (17/56), focal clonic (15/56), versive (13/56), and bilateral asymmetric tonic (4/56). Seventeen patients (30.4%) had abnormal MRI results, including focal cortical dysplasia, heterotopic gray matter, and neuroepithelial tumors. Ictal EEG changes were commonly observed in the dorsolateral premotor and central cortices. In focal tonic seizures, EEG changes often originated in the premotor cortex. The location of the lesions on MRI and EEG coincided in six cases. Conclusion: In pediatric FLE, various seizure types occur depending on the ictal anatomic origin, and individual patients had multiple semiologies. Brain MRI was normal in two-thirds of patients, and interictal EEG did not reveal epileptiform discharges in approximately 25%. Semiology reported on the basis of home videos and interictal EEG will help localize the ictal onset zone.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43694259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 in a Newborn with Refractory Myoclonic Seizures","authors":"J. Byun, J. Ha, C. Kim","doi":"10.26815/acn.2022.00178","DOIUrl":"https://doi.org/10.26815/acn.2022.00178","url":null,"abstract":"Neonates are vulnerable to epileptic seizures. Eighty percent of neonatal seizures occur in the first 1 or 2 days of life. The most common cause of neonatal seizures is hypoxic ischemic encephalopathy. Brain malformations can also be an important cause of seizures. Herein, we present a case of an infant who experienced severe myoclonic seizures with little response to anti-seizure medications from the first day of life. The infant had refractory myoclonic seizures associated with pontocerebellar hypoplasia (PCH) and a mutation in transfer ribonucleic acid splicing endonuclease 54 (TSEN54). This case was reviewed and approved by the Institutional Review Board of Keimyung University Dongsan Hospital (IRB No. 2022-04-017). The requirement for informed consent was waived by the board. A female infant was born at 38 weeks of gestation by cesarean section due to breech presentation at a local hospital. She had a birth weight of 2,840 g (25th to 50th percentile), length of 45 cm (10th to 25th percentile), and head circumference of 31 cm ( < 10th percentile). Although her Apgar scores were 7 and 9 at 1 and 5 minutes, respectively, the baby suffered from severe seizures and respiratory distress from the first day of life. Therefore, she was transferred to a university hospital. A neurological examination revealed generalized myoclonic seizures with respiratory distress, hypertonia of the extremities, joint stiffness of both elbows, and increased deep tendon reflexes. Initial electroencephalography (EEG) showed frequent ictal EEG patterns with 6 to 7 Hz rhythmic activities beginning at P3, P4, and T6 independently. Radiologic studies (Fig. 1) showed a flat ventral pons and a small cerebellum. This baby had no specific findings in studies for metabolic disorders or genetic screening tests associated with early myoclonic seizures in infancy. To determine the genetic cause of PCH, targeted exome sequencing was performed when she was 1 month of age. Finally, two variants of the TSEN54 gene, c.919G > T and c. 623G > A, were found, representing compound heterozygosity. These two variants were confirmed by Sanger sequencing (Fig. 2), and no other copy number variation was found in the diagnostic exome sequencing study. The c.919G > T mutation (NM_ 207346.2:c.919G > T, p.Ala307Ser, rs1139941 52) has been already reported as the most common TSEN54 variant found in PCH patients [1,2], and has been classified as a pathogenic variant in the ClinVar database. It is very rare in large population databases, such as gnomAD (https:// gnomad.broadinstitute.org/), where it has a minor allele frequency (MAF) of 0.09%, and KorepISSN 2635-909X • eISSN 2635-9103 Ann Child Neurol 2022;30(3):152-154 https://doi.org/10.26815/acn.2022.00178","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45738954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Mixed-Lipid Diet (Medium-Chain and Long-Chain Triglycerides) for Better Tolerability and Efficiency in Pediatric Epilepsy Patients","authors":"Rita Yu, Eun Joo Lee, Joon Soo Lee, Hoon-Chul Kang, H. Kim","doi":"10.26815/acn.2022.00094","DOIUrl":"https://doi.org/10.26815/acn.2022.00094","url":null,"abstract":"Purpose: In the past, the use of medium-chain triglycerides (MCTs) for a ketogenic diet (KD) was expected to improve both patients’ and caregivers’ adherence to treatment, but many gastrointestinal problems have been reported. Through a calculated partial administration of MCTs in a KD, we aimed to reduce these complications, while maintaining acceptable seizure reduction. Methods: At a tertiary referral center for pediatric patients with epilepsy, MCT oil was given in a 1:1 ratio with long-chain triglycerides to patients on KDs. Patients who began the diet from February 2019 to February 2020 were reviewed retrospectively, and 47 patients with at least 3 months of follow-up records were enrolled in the study Results: Overall, 29.8% of patients on a KD with an adjusted MCT ratio experienced complications, such as gastrointestinal symptoms and behavioral food refusal, compared to 63.0% of prior KD patients. The mean seizure reduction rate was 68.45%±40.61%, which was not significantly different from the comparison group’s rate of 64.84%±34.24%. Conclusion: Adjusted MCT incorporation into a KD showed comparable seizure control results, with better tolerability of the diet.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42029717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy","authors":"Hyewon Woo, Seungbo Lee, J. Han, W. Kim, M. Kim, M. Seong, S. Kim, A. Cho, B. Lim, Ki Joong Kim, J. Chae","doi":"10.26815/acn.2022.00171","DOIUrl":"https://doi.org/10.26815/acn.2022.00171","url":null,"abstract":"Purpose: X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 ( MTM1 ) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired hypoxic damage. We aim to evaluate the clinical characteristics and neurodevelopmental outcomes of patients with XLMTM who were followed up at a single center. It is essential to understand the volume and conditions to prepare for being a candidate for new therapeutic strategies. Methods: Patients diagnosed with centronuclear myopathy by muscle pathology and MTM1 mutation analysis were included. We retrospectively investigated motor milestones, communication skills, and bulbar and respiratory function in the patients. The patients were categorized into two groups: with and without hypoxic insults (HI). Results: All 13 patients were severely affected by neonatal hypotonia and required respiratory support and a feeding tube during the neonatal period. The follow-up duration was 4.4 years (range, 0.3 to 8.9). In the non-HI group, developmental milestones were delayed but were slowly achieved. Some patients underwent training in oral feeding with thickened foods and weaning from ventilation. Patients with HI showed poor motor function catch-up and communication skills. Three deaths were associated with acute respiratory failure. Conclusion: Patients with XLMTM without HI can survive long-term with the slow achievement of motor milestones and bulbar and respiratory function. However, hypoxic brain damage following acute respiratory failure negatively influences their developmental potential or even lead to death. Therefore, parental education for proper respiratory management is necessary, especially for young children.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47608257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea","authors":"Seungbo Lee, S. Kim, B. Lim, Ki Joong Kim, J. Chae, A. Cho","doi":"10.26815/acn.2022.00136","DOIUrl":"https://doi.org/10.26815/acn.2022.00136","url":null,"abstract":"Purpose: Caveolinopathy is a disease caused by caveolin-3 ( CAV3 ) mutations that shows a wide clinical spectrum, including isolated hyperCKemia and limb-girdle muscular dystrophy. While recent advances in next-generation sequencing (NGS) have enabled earlier diagnosis of this disease, it remains difficult to predict the clinical course of each patient. Methods: This study summarizes the clinical presentations of 13 genetically confirmed caveolinopathy patients in four Korean families. Genetic diagnosis was performed using NGS technolo-gies for probands and Sanger sequencing for the other family members. Results: Four coding mutations were found (p.Val103_Val104del, p.Asp28Glu, p.Pro105Leu, and p.Arg27Gln), and each family showed autosomal dominant inheritance. While all 13 cases had hyperCKemia, only five of them showed some myopathic features including ankle contracture, calf hypertrophy, exercise intolerance, and muscle cramping. This high proportion of asymptomatic cases suggests both that these mutations may be associated with a mild phenotype and that caveolinopathy may be an underdiagnosed disease. Conclusion: This study extends our understanding of caveolinopathy; in particular, the findings suggest the need to consider caveolinopathy in patients with incidental findings of creatine kinase elevation. NGS may be a useful method in the differential diagnosis of such cases.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46502497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}